title: TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours.
abstract: BACKGROUND
  Recently, activating mutations in the TERT promoter were identified in cutaneous melanoma. We tested a cohort of ocular melanoma samples for similar mutations.
  
  
  METHODS
  The TERT promoter region was analysed by Sanger sequencing in 47 uveal (ciliary body or choroidal) melanomas and 38 conjunctival melanomas.
  
  
  RESULTS
  Mutations of the TERT promoter were not identified in uveal melanomas, but were detected in 12 (32%) conjunctival melanomas. Mutations had a UV signature and were identical to those found in cutaneous melanoma.
  
  
  CONCLUSIONS
  Mutations of TERT promoter with UV signatures are frequent in conjunctival melanomas and favour a pathogenetic kinship with cutaneous melanomas. Absence of these mutations in uveal melanomas emphasises their genetic distinction from cutaneous and conjunctival melanomas.
authors.affiliation: Department of Dermatology, University Hospital, University Duisburg-Essen, Hufelandstrasse 55, Essen, Germany. klaus.griewank@uk-essen.de
authors.forename: K G
authors.initials: KG
authors.lastname: Griewank
authors.forename: R
authors.initials: R
authors.lastname: Murali
authors.forename: B
authors.initials: B
authors.lastname: Schilling
authors.forename: S
authors.initials: S
authors.lastname: Scholz
authors.forename: A
authors.initials: A
authors.lastname: Sucker
authors.forename: M
authors.initials: M
authors.lastname: Song
authors.forename: D
authors.initials: D
authors.lastname: Süsskind
authors.forename: F
authors.initials: F
authors.lastname: Grabellus
authors.forename: L
authors.initials: L
authors.lastname: Zimmer
authors.forename: U
authors.initials: U
authors.lastname: Hillen
authors.forename: K-P
authors.initials: KP
authors.lastname: Steuhl
authors.forename: D
authors.initials: D
authors.lastname: Schadendorf
authors.forename: H
authors.initials: H
authors.lastname: Westekemper
authors.forename: M
authors.initials: M
authors.lastname: Zeschnigk
mesh_terms: D000368:Aged; D015331:Cohort Studies; D003230:Conjunctival Neoplasms / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D019098:Telomerase / Q000235:genetics*; D014604:Uveal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D000098943:Uveal Melanoma
chemical_list: D008565:Membrane Proteins; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; C509186:TERT protein, human; D019098:Telomerase; D020558:GTP Phosphohydrolases; C579846:NRAS protein, human